ClinVar Miner

Variants studied for Long QT syndrome

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
644 248 5490 4202 642 1 5 11054

Gene and significance breakdown #

Total genes and gene combinations: 181
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
KCNH2 318 76 1143 812 53 0 2 2340
CACNA1C 10 2 861 1219 245 0 0 2332
AKAP9 0 3 1075 549 86 0 0 1706
ANK2 0 4 887 601 98 0 1 1584
KCNQ1 265 135 495 453 48 0 2 1323
SNTA1 0 1 149 101 18 0 0 267
KCNJ5 2 1 120 78 19 0 0 220
ANK2, LOC126807137 0 0 118 55 17 0 0 189
ANK2, LOC126807136 0 1 121 63 5 0 0 188
KCNE1 12 4 98 49 10 0 0 165
CAV3, OXTR 5 3 79 54 9 0 0 148
KCNQ1, KCNQ1OT1 11 2 34 27 9 0 0 81
SCN5A 4 5 53 6 3 0 0 69
CAV3 8 2 29 11 2 0 0 52
LOC130065680, SNTA1 0 0 22 10 0 0 0 32
AKAP9, LOC121175350 0 0 18 10 0 0 0 28
RYR2 1 1 17 0 0 0 0 19
AKAP9, LOC129998788 0 0 9 5 0 0 0 14
AKAP9, LOC129998789 0 0 5 5 1 0 0 11
SCN4B 0 0 7 3 0 0 0 10
TTN 0 0 5 1 4 0 0 10
LOC130065679, SNTA1 0 0 6 3 0 0 0 9
KCNE2, LOC105372791 0 0 6 1 1 0 0 7
LOC110121269, SCN5A 0 0 7 0 0 0 0 7
MYBPC3 0 1 4 1 1 0 0 7
MYH6 0 1 6 0 0 0 0 7
TRPM4 0 0 6 1 0 0 0 7
DSP 0 0 6 0 0 0 0 6
CACNA1S 0 1 3 0 0 0 0 4
DSG2 0 1 2 1 0 0 0 4
KCNJ2 0 0 4 0 0 0 0 4
RBM20 0 0 3 0 1 0 0 4
RYR1 0 0 4 0 0 0 0 4
UBR4 0 0 4 0 0 0 0 4
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GBX1, KCNH2, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86 2 0 1 0 0 0 0 3
BAG3 0 0 2 1 0 0 0 3
CACNB2 0 0 2 0 1 0 0 3
CTNNA3 0 1 2 0 0 0 0 3
DSC2 0 0 3 0 0 0 0 3
KCNE1, KCNE2, SMIM11 0 0 3 0 0 0 0 3
LDB3 0 0 3 0 0 0 0 3
LOC130065678, SNTA1 0 0 2 1 0 0 0 3
MYH7 0 0 3 0 0 0 0 3
PKP2 0 0 2 1 0 0 0 3
TGFB3 0 0 2 0 1 0 0 3
TMPO 0 0 2 0 1 0 0 3
CACNA1C, CACNA2D4, DCP1B 0 0 2 0 0 0 0 2
CACNA2D1 0 0 2 0 0 0 0 2
CALM2 1 0 1 0 0 0 0 2
CASQ2 0 1 1 0 0 0 0 2
CIT 0 0 2 0 0 0 0 2
DIP2A 0 0 1 1 0 0 0 2
GH-LCR, SCN4A 0 0 2 0 0 0 0 2
GPD1L 0 0 2 0 0 0 0 2
HCN4 0 0 1 0 1 0 0 2
JUP 0 0 2 0 0 0 0 2
KCNE3 0 0 2 0 0 0 0 2
KCNH2, LOC110121275, LOC129999610, LOC129999611, LOC129999612 1 0 1 0 0 0 0 2
KIF21B 0 0 2 0 0 0 0 2
NEXN 0 0 1 1 0 0 0 2
NOS1AP 0 0 2 0 0 0 0 2
PI4KA 0 0 2 0 0 0 0 2
SCN1B 0 0 1 1 0 0 0 2
SLMAP 0 0 2 0 0 0 0 2
UBR5 0 0 2 0 0 0 0 2
VCL 0 0 2 0 0 0 0 2
WDR26 0 0 2 0 0 0 0 2
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GALNT11, GALNTL5, GBX1, KCNH2, KMT2C, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86, XRCC2 0 0 1 0 0 0 0 1
ABCB8, AOC1, ASIC3, ATG9B, CDK5, GIMAP1, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, KCNH2, NOS3, REPIN1, SLC4A2, TMEM176A, TMEM176B, ZNF775 1 0 0 0 0 0 0 1
ABCF1 0 0 0 1 0 0 0 1
ACSS2, ACTL10, AHCY, ASIP, C20orf144, CBFA2T2, CHMP4B, DYNLRB1, E2F1, EDEM2, EIF2S2, GGT7, GSS, ITCH, MAP1LC3A, MIR499A, MYH7B, NCOA6, NECAB3, PIGU, PROCR, PXMP4, RALY, SNTA1, TP53INP2, TRPC4AP, ZNF341 0 0 1 0 0 0 0 1
ACTL10, AHCY, ASIP, C20orf144, CBFA2T2, CHMP4B, DYNLRB1, E2F1, EIF2S2, ITCH, MAP1LC3A, NCOA6, NECAB3, PIGU, PXMP4, RALY, SNTA1, TP53INP2, ZNF341 0 0 1 0 0 0 0 1
ACTN2 0 0 0 1 0 0 0 1
AKAP8 0 0 0 1 0 0 0 1
AKAP9, ANKIB1, CYP51A1, GATAD1, KRIT1, LOC113748416, LOC121175350, LOC126860104, LOC129389824, LOC129389825, LOC129389826, LOC129998788, LOC129998789, LOC129998790, LOC129998791, LOC129998792, LOC129998793, LOC129998794, LRRD1, MIR1285-1 0 0 1 0 0 0 0 1
ANKRD1 0 0 0 0 1 0 0 1
ANKRD31 0 0 0 1 0 0 0 1
ARHGAP22 0 0 0 1 0 0 0 1
ARL13B 0 0 0 1 0 0 0 1
ARPC4, ARPC4-TTLL3, BRPF1, CAMK1, CAV3, CIDEC, CPNE9, CRELD1, IL17RC, IL17RE, JAGN1, LHFPL4, MTMR14, OGG1, OXTR, RAD18, RPUSD3, SETD5, SRGAP3, TADA3, THUMPD3, TTLL3 0 0 1 0 0 0 0 1
ARVCF 0 0 0 1 0 0 0 1
ATL3 0 0 0 1 0 0 0 1
BAIAP3 0 0 0 1 0 0 0 1
CACNA1C, CACNA1C-IT3 0 0 0 0 1 0 0 1
CACNA1C, CACNA1C-IT3, LOC124625881, LOC126861417, LOC126861418, LOC130007179, LOC130007180 0 0 1 0 0 0 0 1
CACNA1C, LOC126861418 0 0 0 0 1 0 0 1
CAV3, LHFPL4, MTMR14, OXTR, RAD18, SETD5, SRGAP3, THUMPD3 0 0 1 0 0 0 0 1
CAV3, SSUH2 1 0 0 0 0 0 0 1
CCDC168 0 0 0 1 0 0 0 1
CCN3 0 0 0 1 0 0 0 1
CD276 0 0 0 1 0 0 0 1
CELSR1 0 0 0 1 0 0 0 1
CTRL 0 0 0 1 0 0 0 1
DMD 0 0 0 0 1 0 0 1
DNA2 0 0 0 1 0 0 0 1
DPP6 0 0 1 0 0 0 0 1
ELMOD2 0 0 0 1 0 0 0 1
ERAP1 0 0 0 1 0 0 0 1
FGF2, LOC109113863 0 0 0 1 0 0 0 1
FSIP2 0 0 0 1 0 0 0 1
GAA 0 0 0 1 0 0 0 1
GNAI2 0 0 1 0 0 0 0 1
GPATCH2 0 0 0 1 0 0 0 1
GUF1 0 0 0 1 0 0 0 1
HK3 0 0 0 1 0 0 0 1
HKDC1 0 0 0 1 0 0 0 1
HNRNPM 0 0 0 1 0 0 0 1
ILK, TAF10 0 0 1 0 0 0 0 1
INTS8 0 0 0 1 0 0 0 1
JPH2 0 0 0 0 1 0 0 1
KCNH2, LOC129999612 1 0 0 0 0 0 0 1
KCNJ8 0 0 1 0 0 0 0 1
KIF11 0 0 0 1 0 0 0 1
KLRG1, PZP 0 0 0 1 0 0 0 1
LMNA 0 0 0 0 1 0 0 1
LMNA, LOC126805877 1 0 0 0 0 0 0 1
LOC126806067, RYR2 0 0 1 0 0 0 0 1
LOC126806068, RYR2 0 0 1 0 0 0 0 1
LOC126806426, TTN 0 0 0 0 1 0 0 1
LOC126806430, TTN 0 0 0 1 0 0 0 1
LOC126861356, SCN4B 0 0 1 0 0 0 0 1
LOC130004408, TCTN3 0 0 0 1 0 0 0 1
LRBA 0 0 0 1 0 0 0 1
LRRC8E 0 0 0 1 0 0 0 1
MDN1 0 0 0 1 0 0 0 1
MKI67 0 0 0 1 0 0 0 1
MYBPHL 0 0 0 1 0 0 0 1
MYL3 0 0 1 0 0 0 0 1
MYLK4 0 0 0 1 0 0 0 1
MYPN 0 0 0 1 0 0 0 1
NET1 0 0 0 1 0 0 0 1
NKX2-5 0 0 1 0 0 0 0 1
NLRP13 0 0 0 1 0 0 0 1
NLRX1 0 0 0 1 0 0 0 1
NR5A2 0 0 0 1 0 0 0 1
NRIP1 0 0 0 1 0 0 0 1
PIK3CG 0 0 1 0 0 0 0 1
PKD1L2 0 0 0 1 0 0 0 1
PLCB4 0 0 0 1 0 0 0 1
POLRMT 0 0 0 1 0 0 0 1
PROKR1 0 0 0 1 0 0 0 1
PRSS12 0 0 0 1 0 0 0 1
PRSS57 0 0 0 1 0 0 0 1
PTOV1 0 0 0 1 0 0 0 1
RALGAPA1 0 0 0 1 0 0 0 1
REM1 0 0 0 1 0 0 0 1
RIMS1 0 0 1 0 0 0 0 1
RNF207 0 1 0 0 0 0 0 1
RTEL1-TNFRSF6B, TNFRSF6B 0 0 0 1 0 0 0 1
SCN3B 0 0 1 0 0 0 0 1
SDC1 0 0 0 1 0 0 0 1
SHANK3 0 0 0 1 0 0 0 1
SIDT1 0 0 0 1 0 0 0 1
SIRT6 0 0 1 0 0 0 0 1
SLC2A5 0 0 0 0 0 1 0 1
SLC6A17 0 0 0 1 0 0 0 1
SNAPC4 0 0 0 1 0 0 0 1
SNAPC5 0 0 0 1 0 0 0 1
SND1 0 0 0 1 0 0 0 1
STK32B 0 0 0 1 0 0 0 1
SYK 0 0 0 1 0 0 0 1
TCAP 0 0 0 0 1 0 0 1
TDRD6 0 0 0 1 0 0 0 1
TECRL 0 1 0 0 0 0 0 1
TGFBRAP1 0 0 0 1 0 0 0 1
TLNRD1 0 0 0 1 0 0 0 1
TMEM43 0 0 1 0 0 0 0 1
TNNI3 0 0 1 0 0 0 0 1
TOP2A 0 0 0 1 0 0 0 1
TRHDE 0 0 0 1 0 0 0 1
TRMU 0 0 0 1 0 0 0 1
UBR7 0 0 0 1 0 0 0 1
UPP1 0 0 0 1 0 0 0 1
USP19 0 0 0 1 0 0 0 1
VSX1 0 0 0 1 0 0 0 1
WDR25 0 0 0 1 0 0 0 1
WWC2 0 0 0 1 0 0 0 1
YME1L1 0 0 0 1 0 0 0 1
ZNF174 0 0 0 1 0 0 0 1
ZNF341 0 0 0 1 0 0 0 1
ZNF862 0 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 627 169 4941 3999 609 0 0 10345
All of Us Research Program, National Institutes of Health 34 22 523 357 36 0 0 972
Dept of Medical Biology, Uskudar University 14 14 107 7 7 0 0 149
Medical Research Institute, Tokyo Medical and Dental University 0 17 28 74 0 1 0 120
Illumina Laboratory Services, Illumina 0 1 93 20 4 0 0 118
CSER _CC_NCGL, University of Washington 1 1 47 9 0 0 0 58
Blueprint Genetics 1 3 41 3 0 0 0 48
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 32 10 0 0 2 0 0 44
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 10 11 21 1 1 0 0 44
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 2 0 7 9 10 0 0 28
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 10 10 4 0 0 24
Cohesion Phenomics 0 0 0 4 6 0 0 10
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 3 1 4 1 0 0 0 9
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 4 3 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 3 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Mendelics 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 1
Translational Genomics Laboratory, University of Maryland School of Medicine 0 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 1 0 0 0 0 0 0 1

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